A tyrosine to glycine mutation at codon 61 (Y61G) was inserted into the locus. Protein levels in mutant mice were nearly identical to those in wild-type in all tissues examined. Immunoblotting demonstrated that the mutant protein was expressed in the auditory and vestibular systems. (J:100987)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S4/SvJae
Targeted
Nucleotide substitutions
--
1
1
1

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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